Analysis of the mechanism for liver cancer developing from non-alcoholic steatohepatitis by next-generation sequencing

对于GWAS，分析了372名日本NAFLD受试者和934名对照个体。对于重复研究，监测了172名NAFLD受试者和1012名对照受试者。PNPLA3基因中的Rs738409与NAFLD的相关性最强。PNPLA3基因中的Rs2896019和rs381062，SAMM 50基因中的rs738491、rs3761472和rs2143571，PARVB基因中的rs6006473、rs5764455和rs6006611也具有显著性，并且与NAFLD患者血清甘油三酯降低和AST和ALT升高相关。这些SNP与脂肪变性分级和NAS相关。Rs738409、rs2896019、rs738491、rs6006473、rs5764455和rs6006611与纤维化相关。我们扩增了19名NAFLD和9名对照受试者的约150kb区域，包括PNPLA3，并通过下一代测序进行分析。

For GWAS, 372 Japanese NAFLD subjects and 934 control individuals were analyzed. For replication studies, 172 NAFLD and 1012 control subjects were monitored. Rs738409 in the PNPLA3 gene was most strongly associated with NAFLD. Rs2896019, and rs381062 in the PNPLA3 gene, rs738491, rs3761472, and rs2143571 in the SAMM50 gene, rs6006473, rs5764455, and rs6006611 in the PARVB gene had also significant and were associated with decreased serum triglycerides and increased AST and ALT in NAFLD patients. These SNPs were associated with steatosis grade and NAS. Rs738409, rs2896019, rs738491, rs6006473, rs5764455, and rs6006611 were associated with fibrosis. We amplified approximately 150kb region including PNPLA3 of 19 NAFLD and 9 control subjects and analyzed by next-generation sequencing.